Požymis
Smaller than typical growth of scrotum
Klinikinis pavadinimas: Small scrotum
Apparently small scrotum for age.
Santrauka
- Taip pat vadinama
- Underdeveloped scrotum, Hypoplastic scrotum, Scrotal hypoplasia
- Kūno sistema
- Abnormality of the genitourinary system
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/small-scrotum.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Smaller than typical growth of scrotum, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test50 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Treacher Collins SyndromeReads 4 of these genesPOLR1BPOLR1CPOLR1DTCOF1About this report →
- Fraser SyndromeReads 3 of these genesGRIP1FRAS1FREM2About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 5 of these genesNR5A1SRD5A2SRYTSPYL1ATRXAbout this report →
- 46,XX Differences of Sex DevelopmentReads 2 of these genesNR5A1SRYAbout this report →
Show 46 more reports
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- BMP4-Related Microphthalmia and AnophthalmiaReads 1 of these genesBMP4About this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 5 of these genesERCC2TBC1D20BMP4RAB18RAB3GAP2About this report →
- Hereditary Orofacial CleftingReads 2 of these genesIRF6BMP4About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesMAGEL2SNRPNAbout this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesTBC1D20RAB18RAB3GAP2About this report →
- Monogenic Precocious PubertyReads 1 of these genesMKRN3About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesIRF6About this report →
- Hypogonadotropic HypogonadismReads 4 of these genesANOS1MAGEL2SNRPNRAB3GAP2About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesTRRAPAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesKCNK3About this report →
- Intellectual DisabilityReads 6 of these genesPHF6RFX7ATRXMED12OPHN1SETBP1About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesSIM1About this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesNR5A1SRYAbout this report →
- Ectodermal DysplasiasReads 1 of these genesNECTIN1About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesPORAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesSTT3AALG12About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR1CAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesGLI3About this report →
- DNA Repair DiseaseReads 1 of these genesERCC2About this report →
- Female InfertilityReads 1 of these genesNR5A1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesPNPLA6About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPOLR1CAbout this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesPOLR1CPNPLA6About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSTXBP1About this report →
Vienu tyrimu sužinokite genus, susijusius su Smaller than typical growth of scrotum, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test72 genų susiję su Smaller than typical growth of scrotum
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Smaller than typical growth of scrotum. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Visada | 2 ligose |
| KAT6Blysine acetyltransferase 6B | Visada | 2 ligose |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Visada | 2 ligose |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| PHF6PHD finger protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 3 ligose |
| SRD5A2steroid 5 alpha-reductase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SRYsex determining region Y | Labai dažnai (80–99%) | 1 ligoje |
| TSPYL1TSPY like 1 | Labai dažnai (80–99%) | 1 ligoje |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| ANOS1anosmin 1 | Dažnai (30–79%) | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Dažnai (30–79%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Dažnai (30–79%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Dažnai (30–79%) | 2 ligose |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 5 ligose |
| NDNnecdin, MAGE family member | Dažnai (30–79%) | 3 ligose |
| NECTIN1nectin cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 3 ligose |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 3 ligose |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TBX3T-box transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Dažnai (30–79%) | 1 ligoje |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 1 ligoje |
| WNT7AWnt family member 7A | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Kartais (5–29%) | 1 ligoje |
| IER3IP1immediate early response 3 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 2 ligose |
Rodyti dar 32 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Kartais (5–29%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Kartais (5–29%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Retai (1–4 %) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Neužfiksuota | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Neužfiksuota | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Neužfiksuota | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Neužfiksuota | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Neužfiksuota | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Neužfiksuota | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| SETBP1SET binding protein 1 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Neužfiksuota | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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